S26G (p.Ser26Gly) variant of ETV6 (Transcription factor ETV6)
S26G (p.Ser26Gly) in ETV6 (Transcription factor ETV6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
S26G (p.Ser26Gly) variant details
- p.Ser26Gly
- gnomAD 12-11752492-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available